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• W9359824 endingPage "S136" @default.
• W9359824 startingPage "S119" @default.
• W9359824 abstract "Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various countries and ethnic groups. During the search for mutations identified among Slavic AIP patients we found 65 such mutations and concluded that there is not a distinct predominance of certain mutations in Slavs." @default.
• W9359824 created "2016-06-24" @default.
• W9359824 creator A5036560089 @default.
• W9359824 creator A5058652447 @default.
• W9359824 creator A5067253674 @default.
• W9359824 date "2006-01-01" @default.
• W9359824 modified "2023-09-25" @default.
• W9359824 title "May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria. Comparison with the situation in Slavic population" @default.
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• W9359824 doi "https://doi.org/10.33549/physiolres.930000.55.s2.119" @default.
• W9359824 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17298216" @default.
• W9359824 hasPublicationYear "2006" @default.
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